Have you ever heard of Orphan Drug designation? This special status was created to incentivize the development of therapies for people with rare conditions (affecting fewer than 200,000 people nationwide). In the past, drug development in this space was tricky as many drug developers felt that creating therapies for rare conditions lacked profitability. Orphan Drug designation encourages development by offering a range of incentives from fee waivers to seven years of market exclusivity if/once the drug is approved.
Pharmaceutical Technology reported that the FDA granted Orphan Drug designation to TYRA-300, an orally administered investigational FGFR3 inhibitor, for the treatment of achondroplasia. Preclinical studies have found TYRA-300 to benefit skeletal dysplasias.
Outside of achondroplasia, TYRA-300 is in development for both non-muscle invasive and muscle invasive bladder cancer, as well as FGFR3+ advanced solid tumors.
Understanding Achondroplasia
Achondroplasia is a bone growth disorder resulting from FGFR3 gene mutations. Normally, this gene tells the body to produce a protein that plays a role in bone growth and maintenance. These mutations make the protein overactive and cause issues with the ossification of cartilage, leading to disproportionate dwarfism (short stature with a normal-sized torso and short limbs). While most cases result from spontaneous mutations, achondroplasia can be inherited.
The average height of men with achondroplasia is 4 feet and 4 inches, with the average female height is 4 feet and 1 inch. Outside of short stature, people with achondroplasia may experience:
- A disproportionately large head compared to the body
- Sleep apnea
- Bowed legs
- Decreased muscle tone
- Hydrocephalus
- Cranial or spinal stenosis
- Difficulty bending elbows
- Chronic ear infections
- Abnormal spinal curvature
There are a number of different ways to manage achondroplasia based on which physical symptoms or health issues someone has. For example, ear tubes may be used for middle ear dysfunction, or surgery for bowed legs or spinal stenosis.
Learn more about achondroplasia here.
